Incidental Mutation 'IGL00902:Ddo'
ID 28303
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ddo
Ensembl Gene ENSMUSG00000063428
Gene Name D-aspartate oxidase
Synonyms 5730402C02Rik, 5330420D20Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL00902
Quality Score
Status
Chromosome 10
Chromosomal Location 40506007-40557843 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 40523550 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 180 (V180A)
Ref Sequence ENSEMBL: ENSMUSP00000019977 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000019977] [ENSMUST00000213503] [ENSMUST00000213856] [ENSMUST00000214102] [ENSMUST00000216830]
AlphaFold Q922Z0
Predicted Effect probably damaging
Transcript: ENSMUST00000019977
AA Change: V180A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000019977
Gene: ENSMUSG00000063428
AA Change: V180A

DomainStartEndE-ValueType
Pfam:DAO 5 324 5.1e-36 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000213503
Predicted Effect probably benign
Transcript: ENSMUST00000213856
Predicted Effect probably benign
Transcript: ENSMUST00000214102
Predicted Effect probably benign
Transcript: ENSMUST00000216830
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a peroxisomal flavoprotein that catalyzes the oxidative deamination of D-aspartate and N-methyl D-aspartate. Flavin adenine dinucleotide or 6-hydroxyflavin adenine dinucleotide can serve as the cofactor in this reaction. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mice are viable and fertile, but can display impaired male copulation, decreased autogrooming, increased body weight, and increased D-aspartate levels, depending on the mutant allele. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts7 T G 9: 90,070,847 (GRCm39) probably null Het
Akap11 A G 14: 78,733,278 (GRCm39) S1876P probably benign Het
Bltp1 G A 3: 37,095,494 (GRCm39) G1001D probably damaging Het
Capn10 A G 1: 92,870,281 (GRCm39) I256V probably benign Het
Catsperg2 T A 7: 29,400,568 (GRCm39) H262L possibly damaging Het
Col22a1 C A 15: 71,836,508 (GRCm39) G509V probably damaging Het
Dab2ip T C 2: 35,607,124 (GRCm39) F523S probably damaging Het
Dbnl G T 11: 5,748,105 (GRCm39) A313S probably benign Het
Enox1 A G 14: 77,819,844 (GRCm39) M200V possibly damaging Het
Fabp6 G A 11: 43,489,543 (GRCm39) R33C probably damaging Het
Gm9104 T C 17: 45,776,940 (GRCm39) probably benign Het
Gspt1 C T 16: 11,050,443 (GRCm39) V303I probably damaging Het
Igf2r C T 17: 12,919,245 (GRCm39) C1469Y probably damaging Het
Igflr1 T C 7: 30,266,700 (GRCm39) S183P possibly damaging Het
Itga6 T C 2: 71,679,738 (GRCm39) V1001A probably benign Het
Itih1 G A 14: 30,654,439 (GRCm39) probably benign Het
Itprid2 G A 2: 79,490,822 (GRCm39) R980Q probably damaging Het
Krt86 C T 15: 101,371,741 (GRCm39) H104Y probably benign Het
Lrp5 T C 19: 3,650,774 (GRCm39) N1220S probably damaging Het
Marchf6 A G 15: 31,485,124 (GRCm39) Y434H probably damaging Het
Mbd1 A G 18: 74,408,310 (GRCm39) Y211C possibly damaging Het
Mpeg1 C A 19: 12,439,133 (GRCm39) A197D probably damaging Het
Mroh2b T A 15: 4,944,704 (GRCm39) L435Q probably damaging Het
Mss51 A C 14: 20,536,235 (GRCm39) M160R probably damaging Het
Ndufs7 T G 10: 80,091,839 (GRCm39) Y190* probably null Het
Or6c38 T A 10: 128,929,265 (GRCm39) I193L probably benign Het
Or9g4b T C 2: 85,616,461 (GRCm39) M202T probably benign Het
Pcdh17 A G 14: 84,684,289 (GRCm39) E252G probably damaging Het
Ric1 T C 19: 29,544,631 (GRCm39) V151A probably benign Het
Sgo2a A G 1: 58,055,258 (GRCm39) T481A probably benign Het
Slc5a8 A G 10: 88,755,323 (GRCm39) T477A probably benign Het
Smg5 G A 3: 88,260,392 (GRCm39) V661I probably benign Het
Snx19 A T 9: 30,340,028 (GRCm39) I389F possibly damaging Het
Spem1 A T 11: 69,712,643 (GRCm39) I64N probably damaging Het
Thada A T 17: 84,755,404 (GRCm39) M262K probably damaging Het
Uox A G 3: 146,316,161 (GRCm39) D32G possibly damaging Het
Usp42 A T 5: 143,705,629 (GRCm39) probably benign Het
Usp43 G A 11: 67,782,245 (GRCm39) P391L probably benign Het
Vmn2r56 T C 7: 12,449,426 (GRCm39) S271G probably benign Het
Wdr64 T A 1: 175,556,391 (GRCm39) C213S probably damaging Het
Zfp26 A T 9: 20,350,844 (GRCm39) S194T possibly damaging Het
Other mutations in Ddo
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01784:Ddo APN 10 40,507,784 (GRCm39) splice site probably benign
IGL01891:Ddo APN 10 40,523,643 (GRCm39) missense possibly damaging 0.95
IGL02559:Ddo APN 10 40,523,517 (GRCm39) missense probably damaging 1.00
IGL02639:Ddo APN 10 40,523,733 (GRCm39) missense probably damaging 1.00
IGL02884:Ddo APN 10 40,513,360 (GRCm39) missense probably benign 0.01
R1796:Ddo UTSW 10 40,523,625 (GRCm39) missense probably benign 0.32
R2512:Ddo UTSW 10 40,508,935 (GRCm39) missense possibly damaging 0.56
R3054:Ddo UTSW 10 40,507,738 (GRCm39) missense probably benign 0.37
R4454:Ddo UTSW 10 40,523,543 (GRCm39) missense probably damaging 0.97
R5517:Ddo UTSW 10 40,523,726 (GRCm39) missense probably benign 0.00
R6336:Ddo UTSW 10 40,509,027 (GRCm39) missense probably damaging 0.98
R6516:Ddo UTSW 10 40,507,741 (GRCm39) missense probably damaging 1.00
R6872:Ddo UTSW 10 40,513,414 (GRCm39) missense possibly damaging 0.71
R7405:Ddo UTSW 10 40,523,993 (GRCm39) missense possibly damaging 0.48
R7735:Ddo UTSW 10 40,507,770 (GRCm39) missense probably benign 0.00
R8309:Ddo UTSW 10 40,513,375 (GRCm39) missense possibly damaging 0.93
R9567:Ddo UTSW 10 40,523,913 (GRCm39) missense probably damaging 1.00
Z1176:Ddo UTSW 10 40,523,929 (GRCm39) missense probably damaging 1.00
Posted On 2013-04-17